Can you live a normal life with Fabry disease?

Can you live a normal life with Fabry disease?

Many people with Fabry disease live full and productive lives. But men in particular don’t live as long as normal. The reason is usually heart disease or kidney disease. If your doctor finds and treats these problems early, it may help lengthen your lifespan.

Why is there no cure for Fabry disease?

Fabry disease patients don’t make enough functional alpha-galactosidase A. As a consequence, Gb3 cannot be broken down and accumulates in various tissues causing damage. There is currently no cure for Fabry disease.

Is Fabry disease a terminal illness?

Fabry disease is a rare, inherited disease caused by the deficiency of an enzyme. It is a lipid storage disorder that mainly affects males. The disease can cause long-term difficulties in the kidneys, heart, and nervous system. It can be fatal.

Is Fabry disease life threatening?

Fabry disease also involves potentially life-threatening complications such as progressive kidney failure, heart failure, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and typically involve only the heart, kidneys, or blood vessels in the brain.

What kind of doctor treats Fabry disease?

Gastroenterologist. Fabry disease can cause digestive symptoms that a specialist called a gastroenterologist can treat. For instance, you might get problems like: Belly pain.

What does Fabry disease feel like?

Fabry disease symptoms include: Numbness, tingling, burning or pain in the hands or feet. Extreme pain during physical activity. Heat or cold intolerance.

Does Fabry disease cause joint pain?

Joint pain and swelling were reported by 43% of male and 39% of female Fabry patients.

Is there any natural treatment for Fabry disease?

Enzyme assay: This test measures alpha-GAL enzymes in blood.

  • Genetic: Because females with Fabry disease can have normal levels of alpha-GAL enzymes,providers use genetic testing (DNA sequencing) to identify the GLA gene mutation.
  • Newborn screenings: Some states test newborns for Fabry disease and other lysosomal storage disorders.
  • Does Fabry disease have a cure?

    There isn’t a cure for Fabry disease. Medications for pain and stomach problems can ease symptoms. There are two treatments that may slow down the build up of the fatty substances with the goal to prevent heart problems, kidney disease and other life-threatening complications:

    What is Fabry disease and its toll on the body?

    Fabry disease is a rare genetic disease with a deficiency of an enzyme called alpha-galactosidase A. The disease affects many parts of the body including the skin, eyes, gastrointestinal system, kidney, heart, brain, and nervous system. Symptoms of Fabry disease include: Episodes of pain and burning sensations. Dark red spots on the skin.

    What does Fabry disease do to a person?

    Renal Implications. Renal complications as a result of Fabry disease tends to get worse as the patient grows old.

  • Cardiovascular Implications. Cardiac alterations in Fabry disease include left ventricular hypertrophy along with abnormalities in conduction.
  • Gastrointestinal Implications.